Identification and analysis of a 'young' polymorphic Alu element

Santosh S. Arcot, Lawrence Livermore National Laboratory
Jennifer J. Fontius, Lawrence Livermore National Laboratory
Prescott L. Deininger, University Medical Center New Orleans
Mark A. Batzer, Lawrence Livermore National Laboratory

Abstract

A polymorphic Alu element belonging to a young subfamily of Alu repeats has been identified. Sequence analysis showed that this Alu element is flanked by perfect direct repeats and a 3′ oligo(dA)-rich tail. The Alu element, designated A25, is deleted by 34 nucleotides at the 5′ end and has a single CpG mutation compared to the human-specific consensus sequence. Using a PCR-based assay, we demonstrated that the A25 Alu repeat is localized to human chromosome 8 and is polymorphic in humans. © 1995.